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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hypoventilation
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Accession:DOID:9003671 term browser browse the term
Definition:A reduction in the amount of air entering the pulmonary alveoli.
Synonyms:exact_synonym: Hypoventilations
 primary_id: MESH:D007040


show annotations for term's descendants           Sort by:
Hypoventilation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL5 C-C motif chemokine ligand 5 ISO associated with Obesity; protein:increased secretion:serum (human) RGD PMID:19701463 RGD:4892041 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172 		JBrowse link
G DCTN1 dynactin subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19136952 NCBI chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296 		JBrowse link
G LEP leptin ISO Obesity Hypoventilation Syndrome RGD PMID:16179823 RGD:5128870 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519 		JBrowse link
G PHOX2B paired like homeobox 2B ISO RGD PMID:12640453 PMID:14566559 RGD:1599147 RGD:1599148 NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449 		JBrowse link
congenital central hypoventilation syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCL1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr12:100,536,895...100,539,737
Ensembl chr12:103,932,302...103,932,999 		JBrowse link
G BDNF brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868 PMID:28492532 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239 		JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome ClinVar PMID:8696331 PMID:19556619 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:55,652,770...55,678,486
Ensembl chr20:57,012,926...57,038,570 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation ClinVar PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331 		JBrowse link
G TLX3 T cell leukemia homeobox 3 ISO OMIM:209880 MouseDO NCBI chr 5:166,658,166...166,661,098
Ensembl chr 5:173,411,881...173,414,106 		JBrowse link
Congenital Central Hypoventilation Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCL1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr12:100,536,895...100,539,737
Ensembl chr12:103,932,302...103,932,999 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome ClinVar
OMIM		 PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 More... NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449 		JBrowse link
Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO1H myosin IH ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM
ClinVar		 PMID:25741868 PMID:28779001 NCBI chr12:106,965,514...107,025,380
Ensembl chr12:110,359,936...110,419,574 		JBrowse link
Congenital Central Hypoventilation Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBX1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 OMIM
ClinVar		 PMID:30487221 NCBI chr10:97,830,026...97,832,751 JBrowse link
Perry syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome ClinVar
OMIM		 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 More... NCBI chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    Pathological Conditions, Signs and Symptoms 12047
      Signs and Symptoms 9978
        Respiratory Signs and Symptoms 238
          Hypoventilation 13
            Obesity Hypoventilation Syndrome 0
            Perry syndrome 1
            congenital central hypoventilation syndrome + 10
Path 2
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15297
      respiratory system disease 3356
        lower respiratory tract disease 2147
          lung disease 2109
            respiratory failure 362
              Hypoventilation 13
                Obesity Hypoventilation Syndrome 0
                Perry syndrome 1
                congenital central hypoventilation syndrome + 10
paths to the root